Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients. 26517685

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. 9298827

1997

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Mechanisms of pathogenicity in human MSH2 missense mutants. 18951462

2008

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327

1998

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer. 10386556

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 11726306

2001

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. 11870161

2002

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Lynch Syndrome in high risk Ashkenazi Jews in Israel. 23990280

2014

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619

2008

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations. 19760518

2009

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. 15996210

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619

2008

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 CausalMutation CLINVAR Splice site mutations in mismatch repair genes and risk of cancer in the general population. 23329266

2013

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836

2000